Canonical Allele Identifier: CA10414146
Gene: AKAP4 HGNC NCBI

Linked Data

dbSNP Id: rs782361715
ExAC: X:49957285 G / T
gnomAD v2: X-49957285-G-T
gnomAD v4: X-50192634-G-T
MyVariant Identifiers: chrX:g.49957285G>T (hg19) chrX:g.50192634G>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.50192634G>T , CM000685.2:g.50192634G>T GRCh38
NC_000023.10:g.49957285G>T , CM000685.1:g.49957285G>T GRCh37
NC_000023.9:g.49844025G>T NCBI36
NG_012552.1:g.13380C>A
NG_012552.2:g.13380C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000358526.7:c.2079C>A MANE Select ENSP00000351327.2:p.Asn693Lys
ENST00000358526.6:c.2079C>A ENSP00000351327.2:p.Asn693Lys
ENST00000376064.7:c.2052C>A ENSP00000365232.3:p.Asn684Lys
ENST00000481402.5:n.2191C>A
NM_003886.2:c.2079C>A NP_003877.2:p.Asn693Lys
NM_139289.1:c.2052C>A NP_647450.1:p.Asn684Lys
NM_003886.3:c.2079C>A MANE Select NP_003877.2:p.Asn693Lys
NM_139289.2:c.2052C>A NP_647450.1:p.Asn684Lys
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